Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912877
rs121912877
COL2A1
1 1.000 0.240 12 47993825 missense variant C/T snv 0.800 1.000 2 1994 1996
dbSNP: rs1565686170
rs1565686170
COL2A1
1 1.000 0.240 12 47989227 splice donor variant C/G snv 0.700 1.000 1 2013 2013
dbSNP: rs121912874
rs121912874
COL2A1
14 0.716 0.400 12 47978329 missense variant G/A snv 0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
15 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
dbSNP: rs587776847
rs587776847
COL2A1
1 1.000 0.240 12 47987268 splice donor variant C/- del 0.700 0
dbSNP: rs794727261
rs794727261
COL2A1
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0